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FLASH GENE

Symbol

EVC

contributors: npt/mct/pgu - updated : 24-09-2015

HGNC name	Ellis van Creveld syndrome
HGNC id	3497

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	117.94 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D4S2375 - D4S527 - D4S842 - D4S543 - D4S843 - EVC EVC ,D4S562 ,CRMP1 - D4S1059 - D4S827 - cen
Authors	Ruiz-Perez (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153717.2 21 - 6430 112 992 - PMID: 8661097

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive pharynx       highly Nervous spinal cord         Reproductive female system breast mammary gland   highly Respiratory lung       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal     Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	developing heart, kidney, lung, fetal eye
	expressed in the developing bones and the orofacial region

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal transmembrane domains
	regions of coiled-coil structure
	a leucine zipper motif

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	localize to the basal bodies of primary cilia

basic FUNCTION	involved in bone development and maintenance
	intracellular component of the hedgehog signal transduction pathway that is required for normal transcriptional activation of Ihh target genes
	with EVC2, having function coordinately in cardiac development and loss of this coordinate function results in the characteristics of EVC syndrome
	endogenous EVC and EVC2 are mutually required for their translocation to cilia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	skeletal muscle

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	EVC and EVC2 are mutually required for maintaining their protein levels and localization
	EVC/EVC2 complex interacts with SMO and is required for signal transduction events
	EFCAB7 is a possible modifier gene in EVC and EVC2 and its related disorders

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EVC , WAD

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     could represent new targets for anti-tumoral therapy

ANIMAL & CELL MODELS

growth plate of Evc(-/-) mice shows delayed bone collar formation and advanced maturation of chondrocytes